Human chromosome 7: DNA sequence and biology

Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, Simone Gentles, Constantine C. Christopoulos, Sanaa ChoufaniDorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H.Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A.P. Bruns, Bruce R. Korf, Hyung Goo Kim, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J.T. Winsor, Karl Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Luis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap Chee Tsui

Research output: Contribution to journalArticle

154 Scopus citations

Abstract

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

Original languageEnglish (US)
Pages (from-to)767-772
Number of pages6
JournalScience
Volume300
Issue number5620
DOIs
StatePublished - May 2 2003

ASJC Scopus subject areas

  • General

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    Scherer, S. W., Cheung, J., MacDonald, J. R., Osborne, L. R., Nakabayashi, K., Herbrick, J. A., Carson, A. R., Parker-Katiraee, L., Skaug, J., Khaja, R., Zhang, J., Hudek, A. K., Li, M., Haddad, M., Duggan, G. E., Fernandez, B. A., Kanematsu, E., Gentles, S., Christopoulos, C. C., ... Tsui, L. C. (2003). Human chromosome 7: DNA sequence and biology. Science, 300(5620), 767-772. https://doi.org/10.1126/science.1083423